title: Genomic organization of the UBE3A/E6-AP gene and related pseudogenes.
abstract: The UBE3A gene encodes the E6-AP ubiquitin-protein ligase and has recently been shown to be mutated in Angelman syndrome patients who lack 15q11-q13 deletions or chromosome 15 paternal uniparental disomy. Previous UBE3A cDNA analysis has shown a coding region of approximately 2.6 kb and a 3'-untranslated region (UTR) of < 50 bp, whereas Northern analysis has indicated mRNA sizes of 5-8 kb. We have analyzed additional cDNA clones and provide evidence for an additional 0.5 kb of 5'-UTR and > 2 kb of 3'-UTR. We have established the genomic organization of UBE3A and the sequence of intron-exon borders. We have also mapped two highly homologous processed pseudogenes, UBE3AP1 and UBE3AP2, to chromosomes 2 and 21, respectively, and determined their genomic organization. These results will form the basis for studies of mutation and imprinting of UBE3A.
authors.affiliation: Genetics Division, Children's Hospital, Boston, Massachusetts, USA.
authors.forename: T
authors.initials: T
authors.lastname: Kishino
authors.forename: J
authors.initials: J
authors.lastname: Wagstaff
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D002891:Chromosomes, Human, Pair 21; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008969:Molecular Sequence Data; D014176:Protein Biosynthesis; D011544:Pseudogenes; D044767:Ubiquitin-Protein Ligases
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases; D008025:Ligases